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Thalassemia in 2017
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Thalassemia in 2017

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 October 2017) | Viewed by 29855

Special Issue Editors

Prof. Dr. Aurelio Maggio

E-Mail Website
Guest Editor
Campus of Haematology Franco e Piera Cutino, Foundation Franco and Piera Cutino, A.O.O.R. “Villa Sofia-Cervello”, 90146 Palermo, Italy
Interests: thalassaemia; gene; clinical trial; progenitor cell; hematopoietic stem cell; hematology
Special Issues, Collections and Topics in MDPI journals
Dr. Khaled M. Musallam

E-Mail Website1 Website2
Co-Guest Editor
International Network of Hematology, London, UK
Interests: hematology; erythropoiesis; iron hemostasis; thalassemia; sickle cell anemia; iron overload; iron deficiency; bleeding disorders; thrombosis
Prof. Dr. Ali Taher

E-Mail Website1 Website2
Co-Guest Editor
1. Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
2. Emory School of Medicine, Atlanta, USA
Interests: platelets; hematology; platelet aggregation; thrombosis; platelet activation; hemostasis; blood disorders; thalassemia
Prof. Dr. Antonis Kattamis

E-Mail Website
Co-Guest Editor
Thalassemia Unit of the First Department of Pediatrics, University of Athens, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
Interests: pediatric hematology-oncology

Special Issue Information

Dear Colleagues,

Thalassemias is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. There are two primary types of Thalassemia disease: α- and β-Thalassemia disease. Recent data suggest that the survival of well-treated patients with Thalassemia Major is now similar to that of Thalassemia Intermedia. In addition, retrospective data on 4943 subjects with a heterozygote state of beta-thalassemia, suggest that, even in patients defined as thalassemia carriers (Thalassemia Minor), there is an increase in morbidity (cirrhosis, kidney disease, etc.) compared with the non-thalassemia population of subjects who are not heterozygote. These data call for a potential revision of the clinical classification of thalassemia, based on strict categories of severity, towards a classification including a “continuum” of the same disease divided into its stages of manifestation. The advantages of this new classification would consist of:

  • expand the use of chelation therapy and transfusion to the “traditionally” less severe forms of thalassemia syndromes for which management was not commonly considered;
  • reduce the morbidity and mortality of such less severe forms of thalassemia syndromes;
  • reduce health care costs associated with the treatment of these uncontrolled complications (cirrhosis, etc.) through prevention;
  • expand the number of patients who have access and are eligible to innovative therapies;
  • review the indications for prenatal diagnosis of Thalassemia Major;

In addition, this Special Issue of IJMS also gives insight into the evolving field of Thalassemias regarding research, diagnosis, treatment modalities and clinical applications.

Dr. Aurelio Maggio
Guest Editor
Prof. Dr. Antonis Kattamis
Prof. Dr. Ali Taher
Dr. Khaled M. Musallam
Co-Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • thalassemias
  • classification
  • diagnosis
  • blood disorder
  • therapy
  • hemoglobin
  • clinical
  • hematology

Published Papers (6 papers)

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Research

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9 pages, 712 KiB  
Article
Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia
by Rosario Di Maggio, Matthew M. Hsieh, Xiongce Zhao, Giuseppina Calvaruso, Paolo Rigano, Disma Renda, John F. Tisdale and Aurelio Maggio
Int. J. Mol. Sci. 2018, 19(3), 681; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms19030681 - 28 Feb 2018
Cited by 9 | Viewed by 4208
Abstract
In sickle cell disease (SCD), hydroxyurea (HU) treatment decreases the number of vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) by increasing fetal hemoglobin (HbF). Data are lacking regarding the frequency of HU dose modification or whether sub-therapeutic doses (<15 mg/kg/day) are beneficial. [...] Read more.
In sickle cell disease (SCD), hydroxyurea (HU) treatment decreases the number of vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) by increasing fetal hemoglobin (HbF). Data are lacking regarding the frequency of HU dose modification or whether sub-therapeutic doses (<15 mg/kg/day) are beneficial. We reviewed the medical records of 140 patients from 2010 to 2014. The laboratory parameters and SCD complications were compared between the first and last visits based on HU use. Fifty patients (36%) never took HU or suspended HU (“no HU” group). Among patients taking <15 mg/kg/day HU on their first visit, half remained at the same dose, and the other half increased to ≥15 mg/kg/day. Among patients taking ≥15 mg/kg/day, 17% decreased to <15 mg/kg/day, and 83% stayed at ≥15 mg/kg/day. The “no HU” group had fewer episodes of VOC and ACS. Both HU treatment groups had a reduction in both complications (p < 0.0001). This improvement was observed in all SCD phenotypes. The white blood cell (WBC) counts were found to be lower, and HbF increased in both HU groups (p = 0.004, 0.001). The maximal HbF response to HU in HbS/β+-thalassemia was 20%, similar to those observed for HbSS (19%) and HbS/β0-thalassemia (22%). HbS/β+-thalassemia could have a similar disease severity as HbSS or HbS/β0-thalassemia. Patients with HbS/β0-thalassemia or HbS/β+-thalassemia phenotypes responded to HU. Full article
(This article belongs to the Special Issue Thalassemia in 2017)
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591 KiB  
Article
Serum Levels of S100b and NSE Proteins in Patients with Non-Transfusion-Dependent Thalassemia as Biomarkers of Brain Ischemia and Cerebral Vasculopathy
by Aikaterini Kanavaki, Konstantinos Spengos, Maria Moraki, Polyxeni Delaporta, Catherine Kariyannis, Ioannis Papassotiriou and Antonis Kattamis
Int. J. Mol. Sci. 2017, 18(12), 2724; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms18122724 - 15 Dec 2017
Cited by 24 | Viewed by 3188
Abstract
Patients with non-transfusion-dependent thalassemia (NTDT) are at risk of developing brain ischemia. Transcranial Doppler (TCD) has been established as a useful screening tool of cerebrovascular disease in patients with sickle cell disease. Proteins neuron specific enolase (NSE) and S100B are biomarkers that reflect [...] Read more.
Patients with non-transfusion-dependent thalassemia (NTDT) are at risk of developing brain ischemia. Transcranial Doppler (TCD) has been established as a useful screening tool of cerebrovascular disease in patients with sickle cell disease. Proteins neuron specific enolase (NSE) and S100B are biomarkers that reflect CNS injury. The purpose of this study is to evaluate cerebral vessel vasculopathy and brain damage in NTDT patients using non-invasive methods as TCD and measurement serum levels of NSE and S100B. We included in our study 30 patients with NTDT, aged between 8 and 62 years old (mean: 29.4, median: 32) who presented in our Unit for regular follow-up. We performed in all patients a non-imaging TCD examination and have measured serum S100, NSE and lactate dehydrogenase (LDH) levels. We investigated the possible correlation between TCD results and S100B, NSE and LDH levels as well as between NSE-LDH and S100B-LDH levels by regression analysis. We found a statistically significant relationship for both NSE, S100B with LDH. We also found a statistically significant relationship for S100B and time-averaged mean velocity (TAMV)/peak velocity of left middle cerebral artery (MCA), NSE and pulsatility index (PI)/resistive index (RI) of the left posterior cerebral artery (PCA). TCD results correlated with biomarkers for brain ischemia. This finding enhances the role of TCD as a screening tool for brain ischemia in patients with NTDT. Full article
(This article belongs to the Special Issue Thalassemia in 2017)
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253 KiB  
Article
Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia
by Diego Velasco-Rodríguez, Carlos Blas, Juan-Manuel Alonso-Domínguez, Gala Vega, Carlos Soto, Aránzazu García-Raso and Pilar Llamas-Sillero
Int. J. Mol. Sci. 2017, 18(12), 2707; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms18122707 - 13 Dec 2017
Cited by 11 | Viewed by 3794
Abstract
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for [...] Read more.
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional α-thalassemia (56 heterozygous α+ thalassemia, 36 homozygous α+ thalassemia, 29 heterozygous α0 thalassemia and 8 cases of Hb H disease). A good correlation between the number of deleted alpha genes and MCV (r = −0.672, p < 0.001), MCH (r = −0.788, p < 0.001) and RDW (r = 0.633, p < 0.001) was observed. The presence of an α0 allele should be discarded in individuals with microcytosis without iron deficiency and normal values of Hb A2 and Hb F with MCH < 23.40 pg. Furthermore, MCH < 21.90 pg and/or MCV < 70.80 fL are strongly suggestive of the presence of one α0 allele. Finally, an accurate presumptive diagnosis of Hb H disease can be made if both RDW ≥ 20% and MCH < 19 pg are seen. Full article
(This article belongs to the Special Issue Thalassemia in 2017)

Review

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16 pages, 782 KiB  
Review
Non-Transfusion-Dependent Thalassemia: An Update on Complications and Management
by Joseph Sleiman, Ali Tarhini, Rayan Bou-Fakhredin, Antoine N. Saliba, Maria Domenica Cappellini and Ali T. Taher
Int. J. Mol. Sci. 2018, 19(1), 182; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms19010182 - 08 Jan 2018
Cited by 50 | Viewed by 8222
Abstract
Patients with non-transfusion-dependent thalassemia (NTDT) experience many clinical complications despite their independence from frequent transfusions. Morbidities in NTDT stem from the interaction of multiple pathophysiological factors: ineffective erythropoiesis, iron overload (IOL), and hypercoagulability. Ineffective erythropoiesis and hemolysis are associated with chronic hypoxia and [...] Read more.
Patients with non-transfusion-dependent thalassemia (NTDT) experience many clinical complications despite their independence from frequent transfusions. Morbidities in NTDT stem from the interaction of multiple pathophysiological factors: ineffective erythropoiesis, iron overload (IOL), and hypercoagulability. Ineffective erythropoiesis and hemolysis are associated with chronic hypoxia and a hypercoagulable state. The latter are linked to a high prevalence of thromboembolic and cerebrovascular events, as well as leg ulcers and pulmonary hypertension. IOL in NTDT patients is a cumulative process that can lead to several iron-related morbidities in the liver (liver fibrosis), kidneys, endocrine glands (endocrinopathies), and vascular system (vascular disease). This review sheds light on the pathophysiology underlying morbidities associated with NTDT and summarizes the mainstays of treatment and some of the possible future therapeutic interventions. Full article
(This article belongs to the Special Issue Thalassemia in 2017)
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711 KiB  
Review
Iron Overload and Chelation Therapy in Non-Transfusion Dependent Thalassemia
by Rayan Bou-Fakhredin, Abdul-Hamid Bazarbachi, Bachar Chaya, Joseph Sleiman, Maria Domenica Cappellini and Ali T. Taher
Int. J. Mol. Sci. 2017, 18(12), 2778; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms18122778 - 20 Dec 2017
Cited by 22 | Viewed by 6040
Abstract
Iron overload (IOL) due to increased intestinal iron absorption constitutes a major clinical problem in patients with non-transfusion-dependent thalassemia (NTDT), which is a cumulative process with advancing age. Current models for iron metabolism in patients with NTDT suggest that suppression of serum hepcidin [...] Read more.
Iron overload (IOL) due to increased intestinal iron absorption constitutes a major clinical problem in patients with non-transfusion-dependent thalassemia (NTDT), which is a cumulative process with advancing age. Current models for iron metabolism in patients with NTDT suggest that suppression of serum hepcidin leads to an increase in iron absorption and subsequent release of iron from the reticuloendothelial system, leading to depletion of macrophage iron, relatively low levels of serum ferritin, and liver iron loading. The consequences of IOL in patients with NTDT are multiple and multifactorial. Accurate and reliable methods of diagnosis and monitoring of body iron levels are essential, and the method of choice for measuring iron accumulation will depend on the patient’s needs and on the available facilities. Iron chelation therapy (ICT) remains the backbone of NTDT management and is one of the most effective and practical ways of decreasing morbidity and mortality. The aim of this review is to describe the mechanism of IOL in NTDT, and the clinical complications that can develop as a result, in addition to the current and future therapeutic options available for the management of IOL in NTDT. Full article
(This article belongs to the Special Issue Thalassemia in 2017)
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213 KiB  
Review
Is the Benefit–Risk Ratio for Patients with Transfusion-Dependent Thalassemia Treated by Unrelated Cord Blood Transplantation Favorable?
by Tang-Her Jaing
Int. J. Mol. Sci. 2017, 18(11), 2472; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms18112472 - 20 Nov 2017
Cited by 4 | Viewed by 3382
Abstract
Transfusion-dependent thalassemia (TDT) is an inherited disorder characterized by absent or defective production of α- or β-hemoglobin chains. If untreated, the disease invariably culminates in death in early infancy due to cardiac failure or overwhelming infection. Although there is clear evidence of good [...] Read more.
Transfusion-dependent thalassemia (TDT) is an inherited disorder characterized by absent or defective production of α- or β-hemoglobin chains. If untreated, the disease invariably culminates in death in early infancy due to cardiac failure or overwhelming infection. Although there is clear evidence of good health-related quality of life and return to normal life style, the choice to undergo hematopoietic stem cell transplantation (HSCT) remains a challenge because of the potential risk of transplant-related mortality (TRM) in TDT. Successful hematopoietic stem cell transplantation may cure the hematological manifestations of TDT, but introduces risks of TRM and morbidity. The low incidence of graft-versus-host disease (GVHD) provides the major rationale for pursuing unrelated cord blood transplantation (CBT). Considerable evidence suggests a lower rate of recurrence after CBT than after transplantation from adult donors. As the TRM, overall survival, and thalassemia-free survival for CBT improve, the utility of this stem cell source will expand to indications that have hitherto rarely used unrelated CBT. This paper summarizes the current progress in understanding the advances in unrelated CBT for thalassemia. Although as yet only in a limited number of patients, the results of unrelated CBT for thalassemia are encouraging. Full article
(This article belongs to the Special Issue Thalassemia in 2017)
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